Canonical Allele Identifier: CA2428428794

Gene: SLC35A2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48904838_48904844delinsCCCGGAG , CM000685.2:g.48904838_48904844delinsCCCGGAG	GRCh38
NC_000023.10:g.48762115_48762121delinsCCCGGAG , CM000685.1:g.48762115_48762121delinsCCCGGAG	GRCh37
NC_000023.9:g.48647059_48647065delinsCCCGGAG	NCBI36
NG_015967.1:g.11921_11927delinsCCCGGAG
NG_034300.1:g.12115_12121delinsCTCCGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000247138.11:c.1065_1071delinsCTCCGGG MANE Select	ENSP00000247138.5:p.Ala355=
ENST00000247138.10:c.1065_1071delinsCTCCGGG	ENSP00000247138.5:p.Ala355=
ENST00000376515.8:c.403_409delinsCTCCGGG	ENSP00000365698.3:p.Leu135=
ENST00000376521.6:c.1065_1071delinsCTCCGGG	ENSP00000365704.1:p.Ala355=
ENST00000376529.8:c.475_481delinsCTCCGGG	ENSP00000365712.3:p.Leu159=
ENST00000413561.7:c.627_633delinsCTCCGGG
ENST00000445167.7:c.475_481delinsCTCCGGG	ENSP00000402726.2:p.Leu159=
ENST00000452555.7:c.1149_1155delinsCTCCGGG	ENSP00000416002.2:p.Ala383=
ENST00000616181.5:c.1104_1110delinsCTCCGGG	ENSP00000478617.1:p.Ala368=
ENST00000635285.1:c.1065_1071delinsCTCCGGG	ENSP00000489484.1:p.Ala355=
ENST00000635460.1:c.425-1379_425-1373delinsCTCCGGG
ENST00000635589.1:c.882_888delinsCTCCGGG	ENSP00000489197.1:p.Ala294=
ENST00000635628.1:c.*959_*965delinsCTCCGGG	ENSP00000489613.1:n.*959_*965delinsCTCCGG...
NM_001032289.2:c.475_481delinsCTCCGGG	NP_001027460.1:p.Leu159=
NM_001042498.2:c.1065_1071delinsCTCCGGG	NP_001035963.1:p.Ala355=
NM_001282647.1:c.475_481delinsCTCCGGG	NP_001269576.1:p.Leu159=
NM_001282648.1:c.403_409delinsCTCCGGG	NP_001269577.1:p.Leu135=
NM_001282649.1:c.882_888delinsCTCCGGG	NP_001269578.1:p.Ala294=
NM_001282650.1:c.1104_1110delinsCTCCGGG	NP_001269579.1:p.Ala368=
NM_001282651.1:c.1149_1155delinsCTCCGGG	NP_001269580.1:p.Ala383=
NM_005660.2:c.1065_1071delinsCTCCGGG	NP_005651.1:p.Ala355=
NM_005660.3:c.1065_1071delinsCTCCGGG MANE Select	NP_005651.1:p.Ala355=
NM_001032289.3:c.475_481delinsCTCCGGG	NP_001027460.1:p.Leu159=
NM_001042498.3:c.1065_1071delinsCTCCGGG	NP_001035963.1:p.Ala355=
NM_001282647.2:c.475_481delinsCTCCGGG	NP_001269576.1:p.Leu159=
NM_001282649.2:c.882_888delinsCTCCGGG	NP_001269578.1:p.Ala294=
NM_001282650.2:c.1104_1110delinsCTCCGGG	NP_001269579.1:p.Ala368=
NM_001282651.2:c.1149_1155delinsCTCCGGG	NP_001269580.1:p.Ala383=
NM_001282648.2:c.403_409delinsCTCCGGG	NP_001269577.1:p.Leu135=